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Uveitis

CAST · rs28580505

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 2,616 European ancestry cases, 478,126 European ancestry controls, 125 East Asian ancestry cases, 174,600 East Asian ancestry controls.

The effect Each copy of the G allele shifted the measure 0.181 lower (95% confidence interval 0.12-0.24); p = 4 × 10−9.

Where it sits Chromosome 5, band 5q15 — in an intron of CAST.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-11-10. ClinVar record 1261787 NM_001750.7(CAST):c.2037+191A>G

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A No copy of the version the research linked to Uveitis. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Uveitis. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Uveitis. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs28580505

What is rs28580505?

rs28580505 is a single position in the genome, in or near the CAST gene. Published research associates it with uveitis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs28580505 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs28580505 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Uveitis (rs28580505). MyGeneLog™. https://www.mygenelog.com/variants/rs28580505

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